Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

G/A/C|Ambiguity code: V|MAF: 0.19 (A)

Chromosome 12:52288357 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_KRT81:c.735+4C>T (G/A)

Most severe consequence
Splice region variant
Evidence status

Clinical significance


LSDB KRT81:c.735+4C>T

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, has 2510 sample genotypes and is associated with 1 phenotype.

Variant displays